Variant report

Variant	rs61412562
Chromosome Location	chr19:44644132-44644133
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44643597..44647343-chr19:44667648..44671629,7	K562	blood:
2	chr19:44643643..44645392-chr19:44686016..44687593,2	K562	blood:
3	chr19:44643597..44646401-chr19:44667704..44670290,3	K562	blood:

Variant related genes	Relation type
ENSG00000167380	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10405450	0.86[ASN][1000 genomes]
rs10409155	0.90[EUR][1000 genomes]
rs10410086	0.86[ASN][1000 genomes]
rs10425945	0.89[ASN][1000 genomes]
rs12460039	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12608984	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2085516	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2100643	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2168989	0.83[ASN][1000 genomes]
rs2232801	0.87[ASN][1000 genomes]
rs2293587	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2356751	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2356752	0.88[EUR][1000 genomes]
rs3817595	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4802209	0.90[EUR][1000 genomes]
rs4802210	0.90[EUR][1000 genomes]
rs4803684	0.89[EUR][1000 genomes]
rs56357907	0.89[ASN][1000 genomes]
rs58778698	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60668498	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61589395	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62117770	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6509146	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7248114	0.87[ASN][1000 genomes]
rs7249209	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7251682	0.81[ASN][1000 genomes]
rs7253533	0.83[ASN][1000 genomes]
rs7260304	0.81[ASN][1000 genomes]
rs8103838	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833840	chr19:44520620-44715760	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44622800-44645000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr19:44630600-44645000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:44635800-44645000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr19:44636000-44644800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr19:44636000-44645000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr19:44636000-44645000	Weak transcription	Brain Angular Gyrus	brain
7	chr19:44636000-44645200	Weak transcription	Fetal Thymus	thymus
8	chr19:44636200-44645000	Weak transcription	NHDF-Ad	bronchial
9	chr19:44636600-44644600	Weak transcription	Right Ventricle	heart
10	chr19:44636600-44645000	Weak transcription	Fetal Intestine Large	intestine
11	chr19:44636600-44645000	Weak transcription	Placenta	Placenta
12	chr19:44636800-44644800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr19:44636800-44644800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr19:44636800-44644800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr19:44636800-44644800	Weak transcription	Brain Anterior Caudate	brain
16	chr19:44636800-44644800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr19:44636800-44645000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr19:44636800-44645000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr19:44636800-44645000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr19:44636800-44645200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:44637000-44645000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr19:44637000-44645000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr19:44637000-44645000	Weak transcription	NH-A	brain
24	chr19:44637200-44644200	Weak transcription	Fetal Brain Male	brain
25	chr19:44637200-44644600	Weak transcription	Fetal Muscle Trunk	muscle
26	chr19:44637200-44644800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr19:44637200-44644800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr19:44637200-44645000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr19:44637200-44645000	Weak transcription	HSMM	muscle
30	chr19:44637400-44644200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr19:44637400-44644600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr19:44637400-44644800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr19:44637400-44644800	Weak transcription	Fetal Kidney	kidney
34	chr19:44637400-44645000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr19:44637600-44644800	Weak transcription	Primary B cells from cord blood	blood
36	chr19:44637600-44644800	Weak transcription	Fetal Brain Female	brain
37	chr19:44637600-44645000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr19:44637800-44645000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr19:44638800-44644800	Weak transcription	Fetal Lung	lung
40	chr19:44639200-44644800	Weak transcription	Psoas Muscle	Psoas
41	chr19:44642400-44644800	Weak transcription	HepG2	liver
42	chr19:44643200-44644600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr19:44643600-44644200	Enhancers	Fetal Heart	heart
44	chr19:44643600-44644800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr19:44644000-44644200	ZNF genes & repeats	Liver	Liver
46	chr19:44644000-44644200	Enhancers	Brain Germinal Matrix	brain
47	chr19:44644000-44644200	Enhancers	Brain Hippocampus Middle	brain
48	chr19:44644000-44644200	Enhancers	Pancreas	Pancrea
49	chr19:44644000-44644200	Enhancers	Right Atrium	heart
50	chr19:44644000-44644200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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